SLF2 — SMC5/6 complex localization factor 2

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

43PubMed Papers

#9,777 · top 50% of 19K genes

21Diseases

top 20%

0Drugs

7Pathogenic Variants

top 62%

OMIM Disease GeneDNA RepairExperimental GO EvidenceSwiss-Prot Reviewed

site of double-strand breakDNA damage responsechromatinnucleoplasmAtelis syndrome 1Abnormality of the skeletal systemanaphylaxisvascular disease

AI Summary

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SMC5/6 complex localization factor 2

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

Atelis syndrome 1Open Targets

0.69Moderate

Abnormality of the skeletal systemOpen Targets

0.45Moderate

anaphylaxisOpen Targets

0.25Weak

vascular diseaseOpen Targets

0.21Weak

obesityOpen Targets

0.21Weak

genetic disorderOpen Targets

0.19Weak

developmental disorder of mental healthOpen Targets

0.18Weak

sleep apneaOpen Targets

0.08Suggestive

esophageal squamous cell carcinomaOpen Targets

0.06Suggestive

diffuse large B-cell lymphomaOpen Targets

0.06Suggestive

Sleep DisorderOpen Targets

0.05Suggestive

neoplasmOpen Targets

0.05Suggestive

lymphomaOpen Targets

0.05Suggestive

morbid obesityOpen Targets

0.04Suggestive

deficiency anemiaOpen Targets

0.03Suggestive

microcephalyOpen Targets

0.03Suggestive

diabetes mellitusOpen Targets

0.03Suggestive

infectious diseaseOpen Targets

0.02Suggestive

atrial fibrillationOpen Targets

0.02Suggestive

cancerOpen Targets

0.02Suggestive

Atelis syndrome 1UniProt

Pathogenic Variants7

NM_018121.4(SLF2):c.1710_1714dup (p.Pro572fs)Likely pathogenic

Atelis syndrome 1

★☆☆☆2025→ Residue 572

NM_018121.4(SLF2):c.1966_1969dup (p.Thr657fs)Likely pathogenic

Atelis syndrome 1

★☆☆☆2025→ Residue 657

NM_018121.4(SLF2):c.2719dup (p.Ser907fs)Pathogenic

Atelis syndrome 1

☆☆☆☆2023→ Residue 907

NM_018121.4(SLF2):c.2347_2348del (p.Asp783fs)Pathogenic

Atelis syndrome 1

☆☆☆☆2023→ Residue 783

NM_018121.4(SLF2):c.568C>T (p.Arg190Ter)Pathogenic

Atelis syndrome 1

☆☆☆☆2023→ Residue 190

NM_018121.4(SLF2):c.2582A>T (p.Asn861Ile)Pathogenic

Atelis syndrome 1

☆☆☆☆2023→ Residue 861

NM_018121.4(SLF2):c.1006dup (p.Arg336fs)Pathogenic

Atelis syndrome 1

☆☆☆☆2023→ Residue 336

Tissue Expression6 tissues

Ovary

100%

Bone Marrow

78%

Heart

68%

Brain

46%

Lung

43%

Liver

38%

Gene Interaction Network6 neighbors

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Structure1 PDB hit

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PDB7T5P · 3.40 Å · EM

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.67LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.52 [0.41–0.67]

Rankings3 dim

Where SLF2 stands among ~20K protein-coding genes

#9,787of 20,598
Most Researched43
#3,256of 5,509
Most Pathogenic Variants7
#4,963of 17,882
Most Constrained (LOEUF)0.67